SKIP003039 - SKIP Search

SKIP003039 : iPS-SPG5-Y275X

Cell Line
Donor
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Cell Line Name	iPS-SPG5-Y275X
Original Database URL
Database
Species	Human
Type	iPS Cell
Original Tissue	Skin fibroblast
Disease Status	Diseased
Description	Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5).
Cell Morphology	human ES-like
Grade	Research Grade

Method for Establishment

Vector	episomal plasmid
Transgene	hOCT4, hSOX2, hKLF4, hL-MYC, hLIN28
Feeder Cell	--

Detection of Contaminants

Mycoplasma	Unknown	Method

Pluripotency Tests

Pluripotent Markers	Yes	Assay	immunocytochemistry and qRT-PCR
in vitro Differentiation	Yes	Assay	immunocytochemistry
in vivo Differentiation	No	Assay

Chromosomal QC

Remaining Vector Detection Test	Yes	Type	PCR

No data available

Disease Name	hereditary spastic paraplegia	ICD10	G114
Disease Name	hereditary spastic paraplegia	OMIM ID	270800
Age	47
Sex	Female
Race	Unknown
Genetic Analysis	Yes

No data available

Journal

1	Stem Cell Res. 2016;17(2):437-440.

Contact Information

#	Name	Organization	Contact Email
1	Stefan Hauser	German Center for Neurodegenerative Diseases

Provider/Distributor

#	Availability	Organization	Email	URL
1	Information Only	German Center for Neurodegenerative Diseases